Neural crest differentiation

No Pathway Network information available for Neural crest differentiation

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Neural crest differentiation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Saethre-chotzen syndromeEnrichmentFGFR2, FGFR3, TWIST15.80
2Non-syndromic bicoronal craniosynostosisEnrichmentFGFR3, TWIST1, ZIC15.80
3Colorectal cancerEnrichmentAXIN2, CDH1, CTNNB1, FGFR2, FGFR3, FZD3, SOX95.43
4Hypertrophic neuropathy of dejerine-sottasEnrichmentGJB1, MPZ, PMP225.40
5Waardenburg syndromeEnrichmentMITF, PAX3, SOX105.10
6Waardenburg syndrome, type 1EnrichmentMITF, PAX3, SOX104.86
7Waardenburg syndrome, type 2eEnrichmentMITF, SNAI2, SOX104.86
8Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ4.86
9Otospondylomegaepiphyseal dysplasia, autosomal recessiveEnrichmentCOL11A2, COL2A14.26
10Pfeiffer syndromeEnrichmentFGFR1, FGFR24.26
11Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.26
12Roussy-levy hereditary areflexic dystasiaEnrichmentMPZ, PMP224.26
13Otospondylomegaepiphyseal dysplasia, autosomal dominantEnrichmentCOL11A2, COL2A14.26
14Connective tissue diseaseEnrichmentCOL2A1, FGFR3, NOTCH1, SOX94.05
15Cleft lip/palateEnrichmentBMP4, CDH1, MSX13.86
16Crouzon syndromeEnrichmentFGFR2, FGFR33.79
17Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR33.79
18Waardenburg syndrome, type 2aEnrichmentMITF, SOX103.79
19Osteoporosis, juvenileEnrichmentWNT1, WNT3A3.79
20Charcot-marie-tooth disease type 1EnrichmentMPZ, PMP223.79
21KeratoacanthomaEnrichmentNOTCH1, NOTCH23.79
22Microform holoprosencephalyEnrichmentDLL1, FGF8, FGFR13.68
23Lobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR13.68
24Semilobar holoprosencephalyEnrichmentDLL1, FGF8, FGFR13.52
25Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL33.49
26Autosomal dominant robinow syndromeEnrichmentDVL1, DVL33.49
27Haddad syndromeEnrichmentASCL1, PHOX2B3.49
28CraniosynostosisEnrichmentFGFR2, FGFR3, TFAP2B3.38
29Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.27
30Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL33.27
31Rhabdomyosarcoma 2EnrichmentPAX3, PAX73.27
32Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL33.27
33HoloprosencephalyEnrichmentFGF8, FGFR13.27
34Sensory peripheral neuropathyEnrichmentGJB1, MPZ3.27
35Tooth agenesisEnrichmentAXIN2, FGFR1, MSX13.25
36Kallmann syndromeEnrichmentFGF8, FGFR1, SOX103.20
37ScoliosisEnrichmentCOL2A1, GFAP, TBX63.14
38Split-hand/foot malformation 1EnrichmentDLX5, FGFR23.09
39Holoprosencephaly 1EnrichmentFGF8, FGFR13.09
40Waardenburg syndrome, type 4aEnrichmentMITF, SOX103.09
41Autosomal recessive robinow syndromeEnrichmentDVL1, DVL33.09
42Spondylocostal dysostosis, autosomal recessiveEnrichmentDLL3, TBX63.09
43Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.95
44Hirschsprung disease 1EnrichmentAXIN2, PHOX2B, SOX102.90
45Peripheral nervous system diseaseEnrichmentGJB1, MPZ, PMP222.77
46NeuropathyEnrichmentGJB1, MPZ, PMP222.77
47Tooth agenesis, selective, 1EnrichmentAXIN2, MSX12.72
48Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB12.72
49Stickler syndromeEnrichmentBMP4, COL2A12.62
50Rare genetic deafnessEnrichmentCOL11A2, MITF, PAX3, SOX102.55
51EpicanthusEnrichmentTCF4, TFAP2A2.46
52Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR32.46
53Charcot-marie-tooth diseaseEnrichmentGJB1, MPZ, PMP222.46
54HydrocephalusEnrichmentFGFR2, FZD32.27
55Septopreoptic holoprosencephalyEnrichmentDLL1, FGF82.27
56Midline interhemispheric variant of holoprosencephalyEnrichmentDLL1, FGF82.27
57GliosarcomaEnrichmentFGFR1, FGFR32.21
58Giant cell glioblastomaEnrichmentFGFR1, FGFR32.16
59Alobar holoprosencephalyEnrichmentDLL1, FGF82.16
60Stickler syndrome, type iEnrichmentCOL2A12.13
61Charcot-marie-tooth disease and deafnessEnrichmentPMP222.13
62Craniofacial-deafness-hand syndromeEnrichmentPAX32.13
63HypochondroplasiaEnrichmentFGFR32.13
64Beare-stevenson cutis gyrata syndromeEnrichmentFGFR22.13
65Parietal foramina with cleidocranial dysplasiaEnrichmentMSX22.13
66Osteoglophonic dysplasiaEnrichmentFGFR12.13
67Guillain-barre syndrome, familialEnrichmentPMP222.13
68Waardenburg syndrome, type 3EnrichmentPAX32.13
69Epiphyseal dysplasia, multiple, with myopia and conductive deafnessEnrichmentCOL2A12.13
70Thanatophoric dysplasia, type iEnrichmentFGFR32.13
71Trigonocephaly 1EnrichmentFGFR12.13
72Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessiveEnrichmentDLX52.13
73Spondylometaphyseal dysplasia, algerian typeEnrichmentCOL2A12.13
74Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC62.13
75Muenke syndromeEnrichmentFGFR32.13
76Deafness, autosomal recessive 53EnrichmentCOL11A22.13
77Osteoarthritis with mild chondrodysplasiaEnrichmentCOL2A12.13
78Oligodontia-colorectal cancer syndromeEnrichmentAXIN22.13
79Avascular necrosis of femoral head, primary, 1EnrichmentCOL2A12.13
80Czech dysplasiaEnrichmentCOL2A12.13
81Char syndromeEnrichmentTFAP2B2.13
82Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR22.13
83Charcot-marie-tooth disease, axonal, type 2jEnrichmentMPZ2.13
84Neuropathy, hereditary, with liability to pressure palsiesEnrichmentPMP222.13
85Kniest dysplasiaEnrichmentCOL2A12.13
86Apert syndromeEnrichmentFGFR22.13
87Hajdu-cheney syndromeEnrichmentNOTCH22.13
88Alagille syndrome 2EnrichmentNOTCH22.13
89Heterochromia iridisEnrichmentMITF2.13
90Parietal foramina 1EnrichmentMSX22.13
91Platyspondylic lethal skeletal dysplasia, torrance typeEnrichmentCOL2A12.13
92Tietz albinism-deafness syndromeEnrichmentMITF2.13
93Lateral meningocele syndromeEnrichmentNOTCH32.13
94Lamb-shaffer syndromeEnrichmentSOX52.13
95Thanatophoric dysplasia, type iiEnrichmentFGFR32.13
96Spondyloepiphyseal dysplasia, stanescu typeEnrichmentCOL2A12.13
97Caudal duplication anomalyEnrichmentAXIN12.13
98Craniosynostosis 6EnrichmentZIC12.13
99Facial paresis, hereditary congenital, 3EnrichmentHOXB12.13
100Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.13
101Bent bone dysplasia syndrome 1EnrichmentFGFR22.13
102Achondrogenesis, type iiEnrichmentCOL2A12.13
10346,xy sex reversal 10EnrichmentSOX92.13
104Adams-oliver syndrome 6EnrichmentDLL42.13
105Chromosome 2q37 deletion syndromeEnrichmentHDAC42.13
106Auriculocondylar syndrome 4EnrichmentHDAC92.13
107Cornelia de lange syndrome 5EnrichmentHDAC82.13
10846,xx sex reversal 2EnrichmentSOX92.13
109Microphthalmia, syndromic 6EnrichmentBMP42.13
110Spondyloperipheral dysplasiaEnrichmentCOL2A12.13
111Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH22.13
112Orofacial cleft 11EnrichmentBMP42.13
113Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnessEnrichmentMITF2.13
114Bone mineral density quantitative trait locus 16EnrichmentWNT12.13
115Athabaskan brainstem dysgenesis syndromeEnrichmentHOXA12.13
116Deafness, autosomal dominant 13EnrichmentCOL11A22.13
117Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.13
118Craniosynostosis 2EnrichmentMSX22.13
119Charcot-marie-tooth disease, dominant intermediate dEnrichmentMPZ2.13
120Charcot-marie-tooth disease, axonal, type 2iEnrichmentMPZ2.13
121Congenital myopathy 19EnrichmentPAX72.13
122Stickler syndrome, type i, nonsyndromic ocularEnrichmentCOL2A12.13
123Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH22.13
124Myofibromatosis, infantile, 2EnrichmentNOTCH32.13
125Fibrochondrogenesis 2EnrichmentCOL11A22.13
126Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF82.13
127Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF42.13
128Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.13
129Structural brain anomalies with impaired intellectual development and craniosynostosisEnrichmentZIC12.13
130Patent ductus arteriosus 2EnrichmentTFAP2B2.13
131Hartsfield syndromeEnrichmentFGFR12.13
132Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.13
133Neurodevelopmental disorder with central hypotonia and dysmorphic faciesEnrichmentHDAC42.13
134Vitreoretinopathy with phalangeal epiphyseal dysplasiaEnrichmentCOL2A12.13
135Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic painEnrichmentMPZ2.13
136Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delayEnrichmentNEUROG12.13
137Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.13
138Attention deficit-hyperactivity disorder 8EnrichmentCDH22.13
139Adenoid ameloblastomaEnrichmentCTNNB12.13
140Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.13
141Charcot-marie-tooth disease type 2iEnrichmentMPZ2.13
142Congenital hereditary facial paralysis-variable hearing loss syndromeEnrichmentHOXB12.13
143Transient cerebral ischemiaEnrichmentNOTCH32.13
144Breast lobular carcinomaEnrichmentCDH12.13
145Autosomal dominant rhegmatogenous retinal detachmentEnrichmentCOL2A12.13
146Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH32.13
147Multiple epiphyseal dysplasia with myopia and deafnessEnrichmentCOL2A12.13
148HypochondrogenesisEnrichmentCOL2A12.13
149Fgfr3-related chondrodysplasiaEnrichmentFGFR32.13
150Split hand-foot malformation 1 with sensorineural hearing lossEnrichmentDLX52.13
151Charcot-marie-tooth disease type 2jEnrichmentMPZ2.13
152Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.13
153DysspondyloenchondromatosisEnrichmentCOL2A12.13
154Cystic lymphangiomaEnrichmentCOL11A22.13
155Bosley-salih-alorainy syndromeEnrichmentHOXA12.13
156Hirschsprung disease-ganglioneuroblastoma syndromeEnrichmentPHOX2B2.13
157Type 2 collagen-related bone disorderEnrichmentCOL2A12.13
158Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.13
159Non-syndromic unicoronal craniosynostosisEnrichmentFGFR22.13
160Autosomal dominant spondylocostal dysostosisEnrichmentTBX62.13
161Microcystic stromal tumorEnrichmentCTNNB12.13
162Heart, malformation ofEnrichmentCOL11A2, COL2A12.11
163Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF8, FGFR12.11
164Endometrial cancerEnrichmentCDH1, FGFR21.98
165HepatoblastomaEnrichmentCTNNB1, FGFR31.98
166Hepatocellular carcinomaEnrichmentAXIN1, CTNNB11.94
167Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYB, MYC1.90
168Ear malformationEnrichmentCOL11A2, MITF1.87
169Charcot-marie-tooth disease, demyelinating, type 1aEnrichmentPMP221.83
170Charcot-marie-tooth disease, demyelinating, type 1bEnrichmentMPZ1.83
171Blepharocheilodontic syndrome 1EnrichmentCDH11.83
172Burkitt lymphomaEnrichmentMYC1.83
173Campomelic dysplasiaEnrichmentSOX91.83
174Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentCOL2A11.83
175Alexander diseaseEnrichmentGFAP1.83
176Spondylometaphyseal dysplasia, corner fracture typeEnrichmentCOL2A11.83
177Robinow-sorauf syndromeEnrichmentTWIST11.83
178Spinocerebellar ataxia, x-linked 1EnrichmentGJB11.83
179Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.83
180Cervical cancerEnrichmentFGFR31.83
181Waardenburg syndrome, type 4cEnrichmentSOX101.83
182Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathyEnrichmentMPZ1.83
183Piebald traitEnrichmentSNAI21.83
184Aural atresia, congenitalEnrichmentFGFR21.83
185Legg-calve-perthes diseaseEnrichmentCOL2A11.83
186Keratosis, seborrheicEnrichmentFGFR31.83
187Neuropathy, congenital hypomyelinating, 1, autosomal recessiveEnrichmentMPZ1.83
188Osteogenesis imperfecta, type xvEnrichmentWNT11.83
189Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.83
190Orofacial cleft 5EnrichmentMSX11.83
191Adams-oliver syndrome 5EnrichmentNOTCH11.83
192Robinow syndrome, autosomal dominant 3EnrichmentDVL31.83
193Witkop syndromeEnrichmentMSX11.83
194Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.83
195Immunodeficiency, common variable, 10EnrichmentNFKB21.83
196Syndactyly, type iiiEnrichmentHDAC81.83
197Spastic paraplegia, intellectual disability, nystagmus, and obesityEnrichmentGFAP1.83
198Adams-oliver syndrome 3EnrichmentRBPJ1.83
199Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.83
200Oculocutaneous albinism, type viiiEnrichmentDCT1.83
201Sweeney-cox syndromeEnrichmentTWIST11.83
202Neuropathy, congenital hypomyelinating, 2EnrichmentMPZ1.83
203Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL11.83
204Infantile myofibromatosisEnrichmentNOTCH31.83
205Charcot-marie-tooth disease type 1bEnrichmentMPZ1.83
206Melanoma, cutaneous malignant 8EnrichmentMITF1.83
207FibrochondrogenesisEnrichmentCOL11A21.83
208Wilson-turner syndromeEnrichmentHDAC81.83
209Childhood hepatocellular carcinomaEnrichmentCTNNB11.83
210Bladder exstrophyEnrichmentISL11.83
211Parietal foraminaEnrichmentMSX21.83
212Acute basophilic leukemiaEnrichmentMYB1.83
213Split hand-foot malformationEnrichmentFGFR21.83
214Rosette-forming glioneuronal tumorEnrichmentFGFR11.83
215Charcot-marie-tooth disease type 1aEnrichmentPMP221.83
216Lipodystrophy, familial partial, type 1EnrichmentNOTCH31.83
217Depressive disorderEnrichmentNOTCH31.83
218Papillary renal cell carcinomaEnrichmentMITF1.83
219Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentSOX101.83
220Angiocentric gliomaEnrichmentMYB1.83
221Familial avascular necrosis of the femoral headEnrichmentCOL2A11.83
222Cervix carcinomaEnrichmentFGFR31.83
223EsotropiaEnrichmentTFAP2A1.83
224Isolated dandy-walker malformation with hydrocephalusEnrichmentZIC11.83
225Interfrontal craniofaciosynostosisEnrichmentFGFR11.83
226Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.83
227Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.83
228TeratomaEnrichmentCTNNB11.83
229Non-syndromic sagittal craniosynostosisEnrichmentTWIST11.83
230Common variable immunodeficiency 12EnrichmentNFKB11.83
231Lens subluxationEnrichmentTFAP2A1.83
232Familial patent arterial ductEnrichmentTFAP2B1.83
233Campomelic dysplasia and related disordersEnrichmentSOX91.83
234Tetralogy of fallotEnrichmentHEY2, NOTCH11.80
235Auditory neuropathyEnrichmentCDH2, NOTCH31.80
236Inherited cancer-predisposing syndromeEnrichmentAXIN2, CDH1, MITF, PHOX2B1.77
237StrabismusEnrichmentDMBX1, SOX51.77
238Bladder cancerEnrichmentCTNNB1, FGFR31.71
239Desmoid disease, hereditaryEnrichmentCTNNB11.65
240AchondroplasiaEnrichmentFGFR31.65
241Mccune-albright syndromeEnrichmentCOL2A11.65
242Craniosynostosis 1EnrichmentTWIST11.65
243Jacobsen syndromeEnrichmentETS11.65
244Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.65
245Larsen syndromeEnrichmentFGFR31.65
246Spondylocostal dysostosis 5EnrichmentTBX61.65
247Spondyloepiphyseal dysplasia congenitaEnrichmentCOL2A11.65
248Hypophosphatasia, infantileEnrichmentCOL11A21.65
24946,xx sex reversal 1EnrichmentSOX91.65
250Autoimmune disease 1EnrichmentFOXD31.65
251Charcot-marie-tooth disease, x-linked dominant, 1EnrichmentGJB11.65
252Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.65
253Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.65
254Chromosome 17q12 deletion syndromeEnrichmentLHX11.65
255Neuroblastoma 2EnrichmentPHOX2B1.65
256Anus, imperforateEnrichmentCTNNB11.65
257Exudative vitreoretinopathy 7EnrichmentCTNNB11.65
258Desmoid tumorEnrichmentCTNNB11.65
259High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.65
260HamartomaEnrichmentFGFR31.65
261Testicular germ cell cancerEnrichmentFGFR31.65
262Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentDLL31.65
263Migraine without auraEnrichmentNOTCH31.65
264Adenoid cystic carcinomaEnrichmentMYB1.65
265SpermatocytomaEnrichmentFGFR31.65
266Multiple epiphyseal dysplasiaEnrichmentCOL2A11.65
267Testicular cancerEnrichmentFGFR31.65
268Isolated dandy-walker malformation without hydrocephalusEnrichmentZIC11.65
269Branchiooculofacial syndromeEnrichmentTFAP2A1.53
270Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH11.53
271Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.53
272Pitt-hopkins syndromeEnrichmentTCF41.53
273Immunodeficiency, common variable, 1EnrichmentNFKB21.53
274PilomatrixomaEnrichmentCTNNB11.53
275Alazami syndromeEnrichmentCTNNB11.53
276Central hypoventilation syndrome, congenital, 1EnrichmentPHOX2B1.53
277Cerebrovascular diseaseEnrichmentNOTCH31.53
278CraniopharyngiomaEnrichmentCTNNB11.53
279GliomaEnrichmentFGFR21.53
280Cleft lip and alveolusEnrichmentMSX11.53
281Clear cell papillary renal cell carcinomaEnrichmentMITF1.53
282Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentMPZ1.44
283Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH31.44
284Retinal detachmentEnrichmentCOL2A11.44
285Exudative vitreoretinopathy 1EnrichmentCTNNB11.44
286Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentSOX101.44
287Ventricular septal defect 1EnrichmentBMP71.44
288Cholangitis, primary sclerosingEnrichmentTCF41.44
289Congenital heart defects, multiple types, 4EnrichmentBMP71.44
290Fuchs' endothelial dystrophyEnrichmentTCF41.44
291AmblyopiaEnrichmentTFAP2A1.44
292Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSOX91.44
293Aplasia cutis congenitaEnrichmentDLL41.44
294Vascular dementiaEnrichmentNOTCH31.44
295Cleft upper lipEnrichmentMSX11.44
296Genetic motor neuron diseaseEnrichmentMPZ1.44
297FarsightednessEnrichmentDMBX11.44
298Primary hypereosinophilic syndromeEnrichmentFGFR11.44
299Nonsyndromic hearing lossEnrichmentCOL11A2, MITF1.41
300Ovarian cancerEnrichmentAXIN2, CDH1, CTNNB11.40
301Gastric cancerEnrichmentCDH1, FGFR21.39
302Familial thoracic aortic aneurysm and aortic dissectionEnrichmentHEY2, NOTCH11.37
303Developmental dysplasia of the hip 1EnrichmentCOL2A11.36
304Branchiootorenal syndrome 1EnrichmentTFAP2A1.36
305Weyers acrofacial dysostosisEnrichmentCTNNB11.36
306Pierre robin syndromeEnrichmentSOX91.36
307Metachromatic leukodystrophyEnrichmentGFAP1.36
308Testicular germ cell tumorEnrichmentFGFR31.36
309Anterior segment dysgenesis 5EnrichmentBMP41.36
310Intestinal pseudo-obstructionEnrichmentTFAP2B1.36
311Pain disorderEnrichmentGJB11.36
312Adrenocortical carcinomaEnrichmentCTNNB11.36
313Lung squamous cell carcinomaEnrichmentFGFR31.36
31446,xy disorder of sex developmentEnrichmentFGFR31.36
315Multicystic kidney dysplasiaEnrichmentFZD31.36
316AlbinismEnrichmentDCT1.36
317Cleft lip with or without cleft palateEnrichmentCDH11.36
318Multicystic dysplastic kidneyEnrichmentFZD31.36
319Nevus, epidermalEnrichmentFGFR31.29
320Multiple enchondromatosis, maffucci typeEnrichmentCOL2A11.29
321Branchiootorenal syndromeEnrichmentTFAP2A1.29
322Motor neuron diseaseEnrichmentMPZ1.29
323Gallbladder cancerEnrichmentCTNNB11.29
324Pilomyxoid astrocytomaEnrichmentFGFR11.29
325Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL1, TCF41.27
326HypertelorismEnrichmentFGFR2, TFAP2A1.24
327Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentCOL11A2, MITF1.24
328Melanocytic nevus syndrome, congenitalEnrichmentSOX51.24
329Spastic paraplegia 4, autosomal dominantEnrichmentTCF41.24
330Fanconi anemia, complementation group cEnrichmentHDAC81.24
331Spondylocostal dysostosis 1, autosomal recessiveEnrichmentDLL31.24
332Exudative vitreoretinopathyEnrichmentCTNNB11.24
333NeuroblastomaEnrichmentPHOX2B1.24
334Hypoplastic left heart syndromeEnrichmentNOTCH11.24
335Isolated split hand-split foot malformationEnrichmentDLX51.24
336MicrocephalyEnrichmentCTNNB1, HDAC8, TCF41.19
337Cornelia de lange syndrome 1EnrichmentHDAC81.19
338Hypogonadotropic hypogonadismEnrichmentFGFR11.19
339Congenital central hypoventilation syndromeEnrichmentPHOX2B1.19
340Cornelia de lange syndromeEnrichmentHDAC81.19
341Myeloma, multipleEnrichmentFGFR3, HDAC41.19
342Cat eye syndromeEnrichmentTFAP2A1.14
343Marfan syndromeEnrichmentCOL2A11.14
344Meier-gorlin syndrome 1EnrichmentFGFR21.14
345Peters-plus syndromeEnrichmentBMP41.14
346Stroke, ischemicEnrichmentNOTCH31.14
347Ciliary dyskinesia, primary, 3EnrichmentNFKB11.14
348MelanomaEnrichmentMITF1.14
349Primary bone dysplasiaEnrichmentFGFR31.14
350Migraine with or without aura 1EnrichmentNOTCH31.10
351Atrial heart septal defectEnrichmentHDAC81.10
35246,xy complete gonadal dysgenesisEnrichmentSOX91.10
353OsteochondrodysplasiaEnrichmentFGFR31.10
354Interatrial communicationEnrichmentHDAC81.10
355Septooptic dysplasiaEnrichmentFGFR11.07
356Aortic valve disease 1EnrichmentNOTCH11.03
357Osteogenesis imperfecta, type ivEnrichmentWNT11.03
358Neural tube defectsEnrichmentITGB11.03
359Stereotypic movement disorderEnrichmentTCF41.03
360Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.00
361OsteoporosisEnrichmentWNT11.00
362MedulloblastomaEnrichmentCTNNB11.00
363Aortic aneurysm, familial thoracic 1EnrichmentNOTCH11.00
364Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH21.00
36546,xy partial gonadal dysgenesisEnrichmentSOX91.00
366Corpus callosum, agenesis ofEnrichmentCDH20.97
367Osteogenesis imperfecta, type iiiEnrichmentWNT10.97
368MyopiaEnrichmentCOL2A10.97
369Isolated corpus callosum agenesisEnrichmentCDH20.97
370Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH20.97
371Melanoma, cutaneous malignant 1EnrichmentMITF0.92
372Polycystic liver diseaseEnrichmentCTNNB10.92
373Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.92
374Charcot-marie-tooth disease type 4EnrichmentMPZ0.90
375Polycystic kidney diseaseEnrichmentHDAC80.90
376Arteriovenous malformations of the brainEnrichmentCDH20.88
377MicrophthalmiaEnrichmentTFAP2A0.82
378Brittle bone disorderEnrichmentWNT10.80
379Congenital nervous system abnormalityEnrichmentCTNNB1, FGFR30.73
380Nervous system diseaseEnrichmentCTNNB1, FGFR30.73
381Prostate cancerEnrichmentCDH10.71
382Stargardt disease 1EnrichmentCOL2A10.70
383Non-syndromic genetic deafnessEnrichmentMITF0.63
384Systemic lupus erythematosusEnrichmentETS10.60
385Type 2 diabetes mellitusEnrichmentRBPJ0.57
386Distal arthrogryposisEnrichmentFZD30.57
387Hereditary breast carcinomaEnrichmentCDH10.55
388Sensorineural hearing lossEnrichmentCOL11A20.52
389Hereditary breast ovarian cancer syndromeEnrichmentMITF0.47
390Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.47
391Primary ovarian insufficiencyEnrichmentNOTCH20.45
392Breast cancerEnrichmentCDH10.37
393Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCOL11A20.31
394Autism spectrum disorderEnrichmentTCF40.25
395Hereditary retinal dystrophyEnrichmentCOL11A2, COL2A10.19
396Fundus dystrophyEnrichmentCOL11A2, COL2A10.19

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